ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14433A>C (p.Thr4811=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002394390 SCV002697884 likely benign Cardiovascular phenotype 2020-11-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV003533226 SCV004361571 likely benign Cardiomyopathy 2022-04-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004804461 SCV005428177 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-08-06 criteria provided, single submitter clinical testing

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